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Aliases for DCHS2 Gene

Aliases for DCHS2 Gene

  • Dachsous Cadherin-Related 2 2 3 5
  • Cadherin-Related Family Member 7 2 3
  • Cadherin-Like Protein CDHJ 3 4
  • Protein Dachsous Homolog 2 3 4
  • Cadherin-Like Protein VR8 3 4
  • Protocadherin PCDHJ 3 4
  • Cadherin-Like 27 2 3
  • PCDH23 3 4
  • CDH27 3 4
  • PCDHJ 3 4
  • CDHJ 3 4
  • Dachsous 2 (Drosophila) 2
  • Protocadherin 23 3
  • Protocadherin-23 3
  • Protocadherin J 3
  • Cadherin-27 4
  • Cadherin J 3
  • CDHR7 3

External Ids for DCHS2 Gene

Previous HGNC Symbols for DCHS2 Gene

  • CDH27
  • PCDH23

Previous GeneCards Identifiers for DCHS2 Gene

  • GC04M155513
  • GC04M155374
  • GC04M155155
  • GC04M150896

Summaries for DCHS2 Gene

Entrez Gene Summary for DCHS2 Gene

  • This gene encodes a large protein that contains many cadherin domains and likely functions in cell adhesion. Genome-wide association studies suggest that this gene may be important in Alzheimer's disease, compressive strength index, and appendicular lean mass. [provided by RefSeq, May 2017]

GeneCards Summary for DCHS2 Gene

DCHS2 (Dachsous Cadherin-Related 2) is a Protein Coding gene. Diseases associated with DCHS2 include Van Maldergem Syndrome and Alzheimer Disease. Among its related pathways are Hippo signaling pathway - multiple species. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHA4.

UniProtKB/Swiss-Prot for DCHS2 Gene

  • Calcium-dependent cell-adhesion protein.

Gene Wiki entry for DCHS2 Gene

Additional gene information for DCHS2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DCHS2 Gene

Genomics for DCHS2 Gene

GeneHancer (GH) Regulatory Elements for DCHS2 Gene

Promoters and enhancers for DCHS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J154489 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 657.7 +4.4 4434 2.5 HDAC1 ELF3 SMAD1 NFIB KLF17 ZNF195 NFXL1 CHAMP1 ZNF335 GLIS2 DCHS2 GC04M154435
GH04J154454 Enhancer 0.9 ENCODE 7 +40.0 40043 2.7 SMAD1 ATF1 ARNT NCOA2 TCF12 GATA2 E2F8 ATF7 NCOA1 ZNF592 DCHS2 GC04M154435
GH04J154415 Enhancer 1.1 Ensembl ENCODE 5.1 +78.9 78931 2.4 PKNOX1 ATF1 SIN3A IRF4 YY1 RUNX3 RXRA REST MEF2D GMEB1 PLRG1 DCHS2 GC04M154435 LOC100419960
GH04J154470 Enhancer 0.8 ENCODE 6.6 +23.3 23328 2.5 PKNOX1 FOXA2 TAF9B BATF YY1 RXRA ZBTB2 NCOA1 ZEB2 ZNF217 DCHS2 GC04M154435
GH04J154506 Enhancer 0.7 ENCODE 5.3 -11.6 -11598 1.4 CTCF FOXA2 ZNF140 RAD21 CTBP1 FOXK2 ARID2 FOSL2 FOS SMARCE1 PLRG1 RNU6-1285P LRAT FGA DCHS2 LOC100128050
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DCHS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DCHS2 gene promoter:

Genomic Locations for DCHS2 Gene

Genomic Locations for DCHS2 Gene
chr4:154,231,742-154,495,570
(GRCh38/hg38)
Size:
263,829 bases
Orientation:
Minus strand
chr4:155,153,399-155,412,930
(GRCh37/hg19)

Genomic View for DCHS2 Gene

Genes around DCHS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCHS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCHS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCHS2 Gene

Proteins for DCHS2 Gene

  • Protein details for DCHS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6V1P9-PCD23_HUMAN
    Recommended name:
    Protocadherin-23
    Protein Accession:
    Q6V1P9
    Secondary Accessions:
    • B2RU14
    • E9PC11
    • Q4W5P9
    • Q6ZS61
    • Q9NXU8

    Protein attributes for DCHS2 Gene

    Size:
    2916 amino acids
    Molecular mass:
    322234 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAY41019.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA90911.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for DCHS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DCHS2 Gene

Post-translational modifications for DCHS2 Gene

  • Glycosylation at posLast=26352635, Asn2522, posLast=24742474, Asn2209, posLast=21002100, Asn2042, posLast=20242024, Asn1874, Asn1615, posLast=15991599, posLast=14431443, Asn1209, Asn1140, Asn1032, Asn820, Asn673, posLast=539539, Asn467, posLast=406406, Asn245, and posLast=220220
  • Modification sites at PhosphoSitePlus

Other Protein References for DCHS2 Gene

No data available for DME Specific Peptides for DCHS2 Gene

Domains & Families for DCHS2 Gene

Gene Families for DCHS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for DCHS2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DCHS2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DCHS2: view

No data available for UniProtKB/Swiss-Prot for DCHS2 Gene

Function for DCHS2 Gene

Molecular function for DCHS2 Gene

UniProtKB/Swiss-Prot Function:
Calcium-dependent cell-adhesion protein.

Phenotypes From GWAS Catalog for DCHS2 Gene

Gene Ontology (GO) - Molecular Function for DCHS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with DCHS2: view
genes like me logo Genes that share phenotypes with DCHS2: view

Animal Model Products

CRISPR Products

miRNA for DCHS2 Gene

miRTarBase miRNAs that target DCHS2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DCHS2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DCHS2 Gene

Localization for DCHS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCHS2 Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DCHS2 gene
Compartment Confidence
plasma membrane 3
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DCHS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DCHS2: view

Pathways & Interactions for DCHS2 Gene

genes like me logo Genes that share pathways with DCHS2: view

Pathways by source for DCHS2 Gene

1 KEGG pathway for DCHS2 Gene

Gene Ontology (GO) - Biological Process for DCHS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with DCHS2: view

No data available for SIGNOR curated interactions for DCHS2 Gene

Drugs & Compounds for DCHS2 Gene

(1) Drugs for DCHS2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with DCHS2: view

Transcripts for DCHS2 Gene

mRNA/cDNA for DCHS2 Gene

Unigene Clusters for DCHS2 Gene

Dachsous 2 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DCHS2

Alternative Splicing Database (ASD) splice patterns (SP) for DCHS2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: - - - -
SP2: - - - - - - - - - -
SP3: - - -
SP4: - -

ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
SP1:
SP2:
SP3:
SP4:

Relevant External Links for DCHS2 Gene

GeneLoc Exon Structure for
DCHS2
ECgene alternative splicing isoforms for
DCHS2

Expression for DCHS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DCHS2 Gene

Protein differential expression in normal tissues from HIPED for DCHS2 Gene

This gene is overexpressed in Bone marrow stromal cell (54.6) and Brain (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DCHS2 Gene



NURSA nuclear receptor signaling pathways regulating expression of DCHS2 Gene:

DCHS2

SOURCE GeneReport for Unigene cluster for DCHS2 Gene:

Hs.655664

mRNA Expression by UniProt/SwissProt for DCHS2 Gene:

Q6V1P9-PCD23_HUMAN
Tissue specificity: Cerebral cortex and testis.

Evidence on tissue expression from TISSUES for DCHS2 Gene

  • Intestine(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with DCHS2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DCHS2 Gene

Orthologs for DCHS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DCHS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC100614431 33
  • 98.93 (n)
DCHS2 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DCHS2 34 33
  • 84.09 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DCHS2 34 33
  • 79.65 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dchs2 33
  • 77.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DCHS2 34
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DCHS2 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 19 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia DCHS2 34
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dchs2 33
  • 58.64 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100004458 33
  • 53.03 (n)
DCHS2 34
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ds 34
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cdh-1 34
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 26 (a)
OneToMany
Species where no ortholog for DCHS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DCHS2 Gene

ENSEMBL:
Gene Tree for DCHS2 (if available)
TreeFam:
Gene Tree for DCHS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DCHS2: view image

Paralogs for DCHS2 Gene

(11) SIMAP similar genes for DCHS2 Gene using alignment to 4 proteins:

  • PCD23_HUMAN
  • B2RU14_HUMAN
  • D3DP12_HUMAN
  • E9PG03_HUMAN
genes like me logo Genes that share paralogs with DCHS2: view

Variants for DCHS2 Gene

Sequence variations from dbSNP and Humsavar for DCHS2 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs193920995 uncertain-significance, Malignant tumor of prostate 154,321,024(-) C/A/T coding_sequence_variant, genic_downstream_transcript_variant, genic_upstream_transcript_variant, missense_variant, stop_gained
rs386352296 uncertain-significance, not provided 154,384,465(-) T/C coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant
rs1000005798 -- 154,457,186(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000009874 -- 154,417,253(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000023153 -- 154,285,393(-) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DCHS2 Gene

Variant ID Type Subtype PubMed ID
esv2658770 CNV deletion 23128226
esv28468 CNV loss 19812545
esv3569756 CNV loss 25503493
esv3602740 CNV gain 21293372
esv3602741 CNV loss 21293372
esv3602742 CNV gain 21293372
nsv1023270 CNV gain 25217958
nsv1128105 CNV deletion 24896259
nsv461692 CNV gain 19166990
nsv507205 OTHER sequence alteration 20534489
nsv507206 OTHER sequence alteration 20534489
nsv510924 OTHER complex 20534489
nsv595752 CNV loss 21841781
nsv595753 CNV gain 21841781
nsv822780 CNV gain 20364138
nsv822781 CNV gain 20364138
nsv830119 CNV gain 17160897

Variation tolerance for DCHS2 Gene

Residual Variation Intolerance Score: 99.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.99; 99.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DCHS2 Gene

Human Gene Mutation Database (HGMD)
DCHS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCHS2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCHS2 Gene

Disorders for DCHS2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DCHS2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
van maldergem syndrome
  • cerebrofacioarticular syndrome
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards
Search DCHS2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DCHS2

genes like me logo Genes that share disorders with DCHS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DCHS2 Gene

Publications for DCHS2 Gene

  1. Identification of new human cadherin genes using a combination of protein motif search and gene finding methods. (PMID: 15003449) Hoeng JC … Liu Y (Journal of molecular biology 2004) 2 3 4 58
  2. Genome-wide association analysis of age-at-onset in Alzheimer's disease. (PMID: 22005931) Kamboh MI … Lopez OL (Molecular psychiatry 2012) 3 44 58
  3. Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease. (PMID: 21757653) Lovely RS … Farrell DH (Arteriosclerosis, thrombosis, and vascular biology 2011) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation. (PMID: 27193062) Adhikari K … Ruiz-Linares A (Nature communications 2016) 3 58

Products for DCHS2 Gene

Sources for DCHS2 Gene

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